beta-induced, 68kDa, also known as TGFBI (initially called BIGH3, BIG-H3), is a protein which in humans is encoded by the TGFBI gene, locus 5q31. This gene encodes...

in the CHST6, KRT3, KRT12, PIP5K3, SLC4A11, TACSTD2, TGFBI, and UBIAD1 genes. Mutations in TGFBI which encodes transforming growth factor beta induced...

some families autosomal dominant inheritance and point mutations in the TGFBI gene encoding keratoepithelin have been identified, but according to the...

[citation needed] Granular corneal dystrophy is caused by a mutation in the TGFBI gene, located on chromosome 5q31. The disorder is inherited in an autosomal...

types: type I: with no systemic association. It is caused by mutations in TGFBI gene encoding keratoepithelin, which maps to chromosome 5q. type II or Finnish...

Corneodesmosin Hypotrichosis simplex of the scalp ACor C-terminal fragments of TGFBI/Keratoepithelin Lattice corneal dystrophy type I, Lattice corneal dystrophy...

and type 3. Type 1 is also known as Biber-Haab-Dimmer corneal dystrophy, TGFBI type Lattice Dystrophy, or Classic Lattice Dystrophy. LCD type II is not...

O43294 16601 TGFB2 HGNC:11768 P61812 16602 TGFB3 HGNC:11769 P10600 16603 TGFBI HGNC:11771 Q15582 16604 TGFBR1 HGNC:11772 P36897 16605 TGFBR2 HGNC:11773...

Tubulin-specific chaperone A TCOF1: Treacher Collins-Franceschetti syndrome 1 TGFBI: keratoepithelin THG1L: Probable tRNA(His) guanylyltransferase TICAM2: TIR...

cornea is not present. The disease has been associated with mutations in TGFBI gene on chromosome 5q which encodes for keratoepithelin. The inheritance...

of it are linked to chromosome 10q24, others stem from a mutation in the TGFBI gene. Corneal dystrophy Thiel HJ, Behnke H (1967). "[A hitherto unknown...

type I; 121900; TGFBI Corneal dystrophy, hereditary polymorphous posterior; 122000; VSX1 Corneal dystrophy, lattice type I; 122200; TGFBI Corneal dystrophy...